HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55087324A>T , CM000666.2:g.55087324A>T | GRCh38 |
NC_000004.11:g.55953491A>T , CM000666.1:g.55953491A>T | GRCh37 |
NC_000004.10:g.55648248A>T | NCBI36 |
NG_012004.1:g.43272T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263923.5:c.3662+283T>A MANE Select | ENSP00000263923.4:n.3662+283T>A | |
ENST00000647068.1:n.3675+283T>A | ||
ENST00000263923.4:c.3662+283T>A | ENSP00000263923.4:n.3662+283T>A | |
NM_002253.2:c.3662+283T>A | NP_002244.1:n.3662+283T>A | |
NM_002253.3:c.3662+283T>A | NP_002244.1:n.3662+283T>A | |
NM_002253.4:c.3662+283T>A MANE Select | NP_002244.1:n.3662+283T>A |